ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023550
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000166788
RCV000536283
RCV003995532
ClinVar Variation:
187099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ile541Val
CA015168
NM_001318832.2:c.1621A>G